Genetically based polycystic kidney diseases include autosomal dominant (ADPKD) and
recessive (ARPKD) polycystic kidney diseases, nephronophthisis and medullary cystic …

The functions of the two proteins defective in autosomal dominant polycystic kidney disease,
polycystin-1 and polycystin-2, have not been fully clarified, but it has been hypothesized that …

Polycystin-1 plays an essential role in renal tubular morphogenesis, and disruption of its
function causes cystogenesis in human autosomal-dominant polycystic kidney disease …

Mutations of either PKD1 or PKD2 cause autosomal dominant polycystic kidney disease, a
syndrome characterized by extensive formation of renal cysts and progressive renal failure …

Mutations in PKD1 and PKD2, the genes that encode polycystin-1 and polycystin-2
respectively, account for almost all cases of autosomal dominant polycystic kidney disease …

Polycystin-1 (PC1) has an essential function in renal tubular morphogenesis and disruption
of its function causes cystogenesis in human autosomal dominant polycystic kidney disease …

The most common form of autosomal dominant polycystic kidney disease (PKD) results from
mutation of the PKD1 gene on chromosome 16p13. 3. The gene encodes a 14-kb …

Most cases of autosomal dominant polycystic kidney disease (ADPKD) are the result of
mutations in the PKD1 gene. The PKD1 gene codes for a large cell‐surface glycoprotein …

The identification of the primary defect in autosomal dominant polycystic kidney disease
(ADPKD) by biochemical methods has proved difficult because of the complexity of the cystic …

The polycystic kidney disease (PKD1) gene-encoded protein, polycystin-1, is
developmentally regulated, with highest expression levels seen in normal developing …